Variant report

Variant	rs12480278
Chromosome Location	chr20:1137983-1137984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1049901	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12479880	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284374	1.00[JPT][hapmap]
rs3787574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6077860	1.00[JPT][hapmap]
rs6134051	1.00[YRI][hapmap]
rs73071655	0.91[ASN][1000 genomes]
rs73071674	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1065838	chr20:866302-1147601	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544139	chr20:866302-1147601	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1055328	chr20:867911-1145765	Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1059611	chr20:867911-1158694	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv544140	chr20:867911-1158694	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1100400-1146600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:1112400-1154800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr20:1113800-1159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:1114000-1138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:1115200-1153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:1116000-1141400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:1116600-1144600	Weak transcription	Stomach Mucosa	stomach
8	chr20:1116800-1141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr20:1117000-1141200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr20:1117000-1141600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:1117200-1144600	Weak transcription	Hela-S3	cervix
12	chr20:1121000-1140800	Weak transcription	K562	blood
13	chr20:1121200-1140400	Weak transcription	NH-A	brain
14	chr20:1121400-1144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr20:1121800-1141200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr20:1125800-1138200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr20:1127200-1141200	Weak transcription	HUVEC	blood vessel
18	chr20:1127200-1143800	Weak transcription	Colon Smooth Muscle	Colon
19	chr20:1127400-1141400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr20:1128000-1140600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr20:1128200-1141200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr20:1128400-1140600	Weak transcription	Brain Angular Gyrus	brain
23	chr20:1128600-1140800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr20:1128800-1140400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr20:1128800-1141200	Weak transcription	Gastric	stomach
26	chr20:1128800-1141200	Weak transcription	NHLF	lung
27	chr20:1128800-1143800	Weak transcription	Small Intestine	intestine
28	chr20:1129000-1140200	Weak transcription	Colonic Mucosa	Colon
29	chr20:1130000-1157800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr20:1130800-1139600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:1131200-1145800	Strong transcription	HepG2	liver
32	chr20:1131600-1138000	Strong transcription	Placenta	Placenta
33	chr20:1132000-1138000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr20:1132000-1138000	Strong transcription	Fetal Intestine Large	intestine
35	chr20:1132000-1138000	Strong transcription	Fetal Lung	lung
36	chr20:1132000-1138000	Strong transcription	A549	lung
37	chr20:1132000-1152000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:1132200-1142600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:1132800-1138200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:1133800-1153800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr20:1134200-1140800	Weak transcription	Fetal Brain Female	brain
42	chr20:1134200-1141200	Weak transcription	Psoas Muscle	Psoas
43	chr20:1134200-1145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr20:1134400-1141000	Weak transcription	NHEK	skin
45	chr20:1135200-1138000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr20:1135400-1141000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr20:1135600-1144200	Weak transcription	Fetal Kidney	kidney
48	chr20:1135600-1159800	Weak transcription	Fetal Heart	heart
49	chr20:1136000-1141400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr20:1136200-1140000	Weak transcription	Spleen	Spleen

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